下一代半导体测序技术在遗传性心肌病分子诊断中的应用

doi:10.16288/j.yczz.14-326

遗传 ›› 2015, Vol. 37 ›› Issue (7): 635-644.doi: 10.16288/j.yczz.14-326

下一代半导体测序技术在遗传性心肌病分子诊断中的应用

赵跃^{1, 2}, 张宏², 夏雪山¹

1. 昆明理工大学生命科学与技术学院,云南省分子医学工程研究中心,昆明650500;
2. 云南省第一人民医院心血管内科,昆明650032

收稿日期:2014-09-28 修回日期:2015-01-07 出版日期:2015-07-20 发布日期:2015-07-20
通讯作者: 张宏,教授,主任医师,研究方向：心血管疾病的基础与临床。E-mail: zhanghongkh@163.com
夏雪山,教授,博士生导师,研究方向：分子遗传学。E-mail: oliverxia2000@aliyun.com
作者简介:赵跃,博士研究生,研究方向：疾病遗传学。E-mail: zy19860908@yeah.net
基金资助:
云南省应用基础研究计划重大项目(编号：2013FC007)资助

Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies

Yue Zhao^{1, 2}, Hong Zhang², Xueshan Xia¹

1. Faculty of Life Science and Technology, Engineering Research Center of Molecular Medicine in Yunnan Province, Kunming University of Science and Technology, Kunming 650500, China;
2. Department of Cardiology, First People's Hospital of Yunnan Province, Kunming 650032, China

Received:2014-09-28 Revised:2015-01-07 Online:2015-07-20 Published:2015-07-20

摘要/Abstract

摘要： 遗传性心肌病(Inherited cardiomyopathy, ICM)是一种常见的遗传性心脏疾病,主要由基因突变所致,是青少年和年轻运动员猝死的最主要原因之一。到目前为止,已经发现约100个基因和其致病有关,这些基因相关的变异位点具有不同的致病机制。随着临床遗传检测在遗传疾病诊断中的应用,对遗传性心肌病的分子遗传学特性及其致病机制进行深入了解,是对该病遗传诊断的关键。下一代半导体测序仪在2010年底由美国Life Technologies公司发布,其以布满微孔的高密度半导体芯片为测序基础,具有快速、经济、灵敏性好、准确率高等特点,已经应用于遗传疾病的突变筛查。文章主要对遗传性心肌病的分子遗传学特性和下一代半导体测序技术在遗传性心肌病遗传检测中的应用以及面临的挑战进行了概括总结,有助于遗传性心肌病的诊断、预防和治疗。

关键词: 遗传性心肌病, 分子诊断, 下一代测序技术, 半导体

Abstract: Inherited cardiomyopathy is the most common hereditary cardiac disease. It also causes a significant proportion of sudden cardiac deaths in young adults and athletes. So far, approximately one hundred genes have been reported to be involved in cardiomyopathies through different mechanisms. Therefore, the identification of the genetic basis and disease mechanisms of cardiomyopathies are important for establishing a clinical diagnosis and genetic testing. Next-generation semiconductor sequencing (NGSS) technology platform is a high-throughput sequencer capable of analyzing clinically derived genomes with high productivity, sensitivity and specificity. It was launched in 2010 by Life Technologies of USA, and it is based on a high density semiconductor chip, which was covered with tens of thousands of wells. NGSS has been successfully used in candidate gene mutation screening to identify hereditary disease. In this review, we summarize these genetic variations, challenge and application of NGSS in inherited cardiomyopathy, and its value in disease diagnosis, prevention and treatment.

Key words: inherited cardiomyopathy, genetic diagnosis, next-generation sequencing technologies, semiconductor

赵跃, 张宏, 夏雪山. 下一代半导体测序技术在遗传性心肌病分子诊断中的应用[J]. 遗传, 2015, 37(7): 635-644.

Yue Zhao, Hong Zhang, Xueshan Xia. Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies[J]. HEREDITAS(Beijing), 2015, 37(7): 635-644.

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下一代半导体测序技术在遗传性心肌病分子诊断中的应用

Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies

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